A Case of Osteogenesis Imperfecta: Diagnosed in Uterus by Ultrasonogram.

Kim, Jung Seok; Kang, Jeong Bae; Huh, Jin Suk; Kim, Hong Bae; Lee, Keun Young; Kang, Seong Won; Park, Keum Ja

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Case Report

Korean Journal of Obstetrics & Gynecology 1997;40(1):198-202.
Published online January 1, 2001.

A Case of Osteogenesis Imperfecta: Diagnosed in Uterus by Ultrasonogram.

Jung Seok Kim, Jeong Bae Kang, Jin Suk Huh, Hong Bae Kim, Keun Young Lee, Seong Won Kang, Keum Ja Park

Abstract

Osteogenesis imperfecta is a relatively rare genetic condition of breakable bones with an incidence of 1 per 20,000~60,000. The clinical, genetic, and biochemical heterogeneity in osteogenesis imperfecta allows to least four subtypes to be distinguished. Prenatal diagnosis of osteogenesis imperfecta type II have been reported several times with ultrasonography. We recently experienced a case of osteogenesis imperfecta diagnosed in uterus by ultrasonogram and confirmed after termination and autopsy. We report here with a brief review of the literature.

Key Words: Osteogenesis imperfecta, Ultrasonography

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